tbuckley/cabot-search huggingface dataset:
Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis
Authors: Smitha Chillambhi, Serap Turan, Daw-Yang Hwang, Hung-Chun Chen, Harald Jüppner, Murat Bastepe
Journal: Endocrine Reviews (2010)

GNAS encodes the α-subunit of the stimulatory G protein as well as additional imprinted transcripts including the maternally expressed NESP55 and the paternally expressed XLαs, antisense, and A/B transcripts. Most patients with pseudohypoparathyroidism type Ib (PHP-Ib) exhibit imprinting defects affecting the maternal GNAS allele, which are thought to reduce/abolish Gsα expression in renal proximal tubules and thereby cause resistance to PTH. Our objective was to define the genetic defect in a previously unreported family with autosomal dominant PHP-Ib. Analyses of serum and urine chemistries and of genomic DNA and lymphoblastoid-derived RNA were conducted at a tertiary hospital and research laboratory. Affected individuals presented with muscle weakness and/or paresthesia and showed hypocalcemia, hyperphosphatemia, and elevated serum PTH. Obligate carriers were healthy and revealed no obvious abnormality in mineral ion homeostasis. A novel 4.2-kb microdeletion was discovered in the affected individuals and the obligate carriers, ablating two noncoding GNAS antisense exons while preserving the NESP55 exon. On maternal transmission, the deletion causes loss of all maternal GNAS imprints, partial gain of NESP55 methylation, and PTH resistance. Paternal transmission of the mutation leads to epigenetic alterations in cis, including a partial loss of NESP55 methylation and a partial gain of A/B methylation. The identified deletion points to a unique cis-acting element located telomeric of the NESP55 exon that is critical for imprinting both GNAS alleles. These findings provide novel insights into the molecular mechanisms underlying PHP and GNAS imprinting.
EVENTS FOLLOWING THE INTRAVENOUS INJECTION OF PARTICULATE MATERIAL
Journal: JAMA (1921)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
The Taxonomic Value of the Microscopic Structure of the Stigmal Plates in the Tick Genus Dermacentor.
Journal: JAMA (1910)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Role of angiotensin II in the pathogenesis of hyperdipsia in chronic renal failure
Authors: T. Yamamoto
Journal: JAMA (1986)

The relation of thirst to the renin-angiotensin system was examined in 38 patients with chronic renal failure receiving hemodialysis treatment. They were classified into three groups, ie, group 1(19 patients), no or modest thirst; group 2 (13 patients), moderate thirst; and group 3 (six patients), excessive thirst. The plasma renin activity, plasma angiotensin II levels, and interdialytic weight gains of groups 1 to 3 significantly increased in a progressive manner with intensity of thirst. The hyperdipsia experienced by four patients in group 3 ameliorated after administration of an angiotensin-converting-enzyme inhibitor. The hyperdipsia of some patients with chronic renal failure therefore appears to be mediated by increased production of endogenous angiotensin II. (<i>JAMA</i>1986;256:604-608)
Martini's Principles and Practice of Physical Diagnosis
Journal: JAMA (1935)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Lost gold: the decline of the academic mission in US medical schools
Authors: A. R. Marks
Journal: Journal of Clinical Investigation (2004)

Medical education needs to be redesigned so that it is an equally shared responsibility of clinicians and physician-scientists, with greatly enhanced opportunities for student-faculty bonding. Traditional departments and divisions must be restructured to provide more thoughtful and effective support for academic clinicians and physician-scientists. Existing infrastructure should be improved so that in exchange for the commitment of time and effort for teaching, the faculty members receive tangible services from their institutions (e.g., information technology that actually saves time, state-of-the art teaching aids that are user friendly, streamlined administrative oversight to avoid duplicate submissions to regulatory offices, more helpful grant management and accounting).
The Physiological Feeding of Infants. A Practical Hand-Book of Infant Feeding, and Key to the "Physiological Nursery Chart."
Journal: JAMA (1905)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Nonoperative ligation treatment of internal hemorrhoids
Authors: N. W. Frink
Journal: JAMA (1968)

A hemorrhoidectomy is extremely unpleasant for the patient. He has a great deal of pain afterward, and he can vividly recall his first postoperative bowel movements for a very long time! After several well-remembered days in the hospital, he is still usually unable to return to work for one to three weeks. In addition to the pain and suffering, the operation can cost a lot of money. If the surgeon's and the anesthesiologist's fees, the operating room and hospital charges, and the patient's lost earnings are totaled, the expense is often considerable. Hemorrhoids are essentially benign. They rarely, if ever, threaten life. After all, hemorrhoids are only varicosities occurring in veins normally present in the rectum. Asymptomatic hemorrhoids probably need not be treated at all. Hemorrhoids, however, can be most unpleasant and disagreeable. They can bleed; they can protrude. Often they are quite uncomfortable. Sometimes they hurt. As a rule,
Health care use among young children in day care. Results in a randomized trial of early intervention
Authors: M. C. McCormick
Journal: JAMA (1991)

Exposure of young children to group day-care settings increases the risk of illness and may result in higher use of medical care. These observations raise concerns that the use of such settings for early intervention programs for low—birth-weight infants may increase the already high burden of medical care costs incurred by these children and their families. To address the question of medical care use associated with center-based care, we examined the hospital-based and ambulatory care reported for participants of the Infant Health and Development Program. This project is a multisite randomized trial of an early intervention program for preterm low—birth-weight infants with an intervention including 2 years of center-based care. The Intervention group did not differ in hospital-based care and averaged only two more physicians' visits over the 3-year observation period than the comparison group. We conclude that early intervention programs involving high-quality group care are not accompanied by substantial increases in health care use. (<i>JAMA</i>. 1991;265:2212-2217)
Ulcerative Colitis
Authors: Louis Zetzel
Journal: New England Journal of Medicine (1954)

Carcinoma in ColitisThe possible association of carcinoma of the colon with colitis is of more than academic interest since it may affect the prognosis of a given case and influence the extent of surgical intervention.93 Although pathologists, in the past, have denied any relation between the two diseases, more recent studies have emphasized the effect of polyps on the subsequent development of cancer in the ulcerated colon.94 , 95 Of the various types of excrescences that appear attached to the bowel wall, neither the mucosal tags nor inflammatory polyps consisting of mucous membrane and granulation tissue are premalignant.94 These pseudopolyps, though . . .
Abstract 2302: Natural killer cell cancer therapy in mouse model
Authors: Shih-Wen Huang, Yein-Gei Lai, Jen-Qi Wu, Yae-Huei Liou, Nan-Shih Liao
Journal: Cancer Research (2019)

Abstract Natural killer (NK) cells exert anti-tumor function through direct killing of tumor cells and indirect modulation of the function of other immune cells, such as T cells, dendritic cells and macrophages. However, the efficacy of adoptive NK cell transfer in cancer treatment has been limited, and only found in certain myeloid leukemia under allogeneic setting. The functional heterogeneity of NK cells and the immunosuppressive tumor microenvironment likely contribute to the limited efficacy. We establish a method to condition ex vivo expanded murine NK cells with anti-tumor activity. The conditioned NK cells are EOMES+CD127-DX5-CD49a+and CD11b+CD27+. Encountering with solid tumor cell lines in vitro enhances the production of IFN-γand triggers killing of the tumor cells by conditioned NK cells. In a syngeneic orthotopic EO771 breast cancer model, adoptive transfer of conditioned NK cells into tumor-bearing mice slows tumor progression and alters the composition and function of intra-tumor immune cells. To better imitate clinical condition, we transfer conditioned NK cells into tumor-resected mice, and found the therapy improved survival rate. We are investigating the anti-tumor mechanism of the conditioned NK cells. Citation Format: Shih-Wen Huang, Yein-Gei Lai, Jen-Qi Wu, Yae-Huei Liou, Nan-Shih Liao. Natural killer cell cancer therapy in mouse model [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 2302.
Hazards associated with diaper changing
Authors: M. A. McCormick
Journal: JAMA (1982)

The incidence of exposure to poisons occurring in children during diaper changing was recorded during a three-month period. There were 138 cases, with 79% between the ages of 7 to 18 months; 42% of the poisonings occurred between 5 PM and 9 PM. Powders accounted for 47% of the exposures. Symptoms were mild and occurred most often with powders. During diaper changing, children are at increased risk of poisoning. (<i>JAMA</i>1982;248:2159-2160)
Correspondence
Authors: Korosh Khalili, Morris Sherman
Journal: Hepatology (2012)

We thank Drs. Caturelli and Ghittoni for drawing attention to our study. We are, however, unsure if due diligence was given to the review and interpretation of our article. Caturelli and Ghittoni contend that the incidence of hepatocellular carcinoma (HCC) among indeterminate nodules in our study is too low. As mentioned in the Discussion section, our reported incidence of 13%-24% is well within the range of 9%-33% reported by three European studies.1 The reason for the low incidence is the more sensitive imaging diagnostic criteria for 1-2 cm HCC in the updated American Association for the Study of Liver (AASLD) guidelines, where now one of two, rather than both, positive contrast imaging scan is required for diagnosis of malignancy.2 Furthermore, their suggestion that a smaller criterion for nodule growth than our 30% increase in diameter be used is highly unrealistic, given inter- and intraobserver variability for measuring 1-2 cm nodules. Precisely for this reason were the Response Evaluation Criteria In Solid Tumors (RECIST) criteria revised to the current 1.1 version. A criterion of a minimum of 5 mm growth in the single largest diameter of target lesion was added to avoid interpreting measurement error in small lesions as progressive disease.3 Caturelli and Ghittoni indicate puzzlement as to why some of our nodules were not visible on grayscale ultrasound. We have described in our methodology the realistic inclusion of nodules that were found on subsequent computed tomography (CT)/magnetic resonance imaging (MRI) work-up imaging. Additionally, the authors misinterpreted the aim of our study, which was to identify variables with significant association with HCC that would allow selective application of biopsy to a subset of indeterminate 1-2 cm nodules. Our aim was not to measure the impact of biopsy. Finally, biopsy sampling error is expected for such small nodules and that is why the AASLD guidelines ignore negative biopsies and recommend close follow-up or rebiopsy.2 Forner et al.4 reported 30% and 39% false-negative biopsy rates for first and second biopsies of HCCs. We want to vigorously stress that the aim of oncology is not the successful treatment of tumors, as Caturelli and Ghittoni suggest, but rather increasing patient survival. The treatment of "very early HCCs" has not been studied in such a way. When the majority of indeterminate nodules remain stable in the long-term, it is reasonable to limit biopsy and treatment to those who are predisposed to growth while closely following the others. Korosh Khalili M.D.*, Morris Sherman M.D. , * Department of Medical Imaging, University of Toronto, University Health Network, Princess Margaret Hospital, Toronto, ON, Canada, Department of Gastroenterology, University of Toronto, University Health Network, Princess Margaret Hospital, Toronto, ON, Canada.
Avidity and bactericidal activity of antibody elicited by different Haemophilus influenzae type b conjugate vaccines. The Vaccine Study Group
Authors: Y. Schlesinger
Journal: JAMA (1992)

<h3>Objective.</h3> —Antibody avidity is a measure of the functional affinity of serum antibody to bind to antigen. In this study, we compared the avidity of antibodies elicited by vaccination with three<i>Haemophilus influenzae</i>type b (Hib) conjugate vaccines and investigated the relationship between antibody avidity and the ability of antibody to activate complement-mediated bactericidal activity. <h3>Design.</h3> —A convenience sample of 171 postvaccination serum samples with more than 0.5 μg/mL of anticapsular antibody, the minimum concentration required for measurement of avidity. The serum samples were obtained from infants participating in immunogenicity trials with Hib capsular polysaccharide (PRP) conjugated to meningococcal outer membrane protein complex (PRP-OMPC) or to tetanus toxoid (PRP-T), or PRP oligomers conjugated to a nontoxic mutant diphtheria toxin, CRM<sub>197</sub>(Oligo-CRM). <h3>Patients.</h3> —Healthy infants recruited in private practices. <h3>Primary Outcome Measures.</h3> —Avidity of vaccine-induced serum anticapsular antibody and serum bactericidal titers. <h3>Results.</h3> —In infants vaccinated at 2, 4, and 6 months of age, Oligo-CRM evoked antibody of higher avidity than PRP-OMPC (<i>P</i>&lt;.001). The mean avidity of antibody elicited by PRP-T was intermediate, being lower than Oligo-CRM (<i>P</i>&lt;.02) but higher than PRP-OMPC (<i>P</i>=.001). Also, after one dose, 18-month-old infants given Oligo-CRM had higher avidity antibodies compared with those given PRP-OMPC (<i>P</i>&lt;.001). Half of the infants in both age groups who were given Oligo-CRM developed antibody avidity of 2.50 nM<sup>-1</sup>or greater, whereas more than two thirds of the infants given PRP-OMPC had avidity values of 1.25 nM<sup>-1</sup>or less. Antibodies with avidity of 1.25 nM<sup>-1</sup>or less were, on average, 6.6-fold less active in assays of complement-mediated bactericidal activity than antibodies with avidity of 2.50 nM<sup>-1</sup>or greater (<i>P</i>&lt;.001). <h3>Conclusions.</h3> —Oligo-CRM and PRP-T conjugate vaccines elicit higher avidity antibody than PRP-OMPC, and high-avidity antibody is more potent than low-avidity antibody in serum bactericidal assays. Consideration should be given to including measurement of antibody avidity in assessment of new vaccines since avidity may affect the ability of serum antibody to confer protection against disease. (<i>JAMA</i>. 1992;267:1489-1494)
Current role of digitalis therapy in patients with congestive heart failure
Authors: D. L. Kulick
Journal: JAMA (1991)

Digitalis has been used in the treatment of chronic congestive heart failure for 215 years. In this article, numerous clinical studies and trials that have evaluated the efficacy of digitalis in the treatment of patients with congestive heart failure are reviewed. The data indicate that digitalis is a valuable therapeutic agent for relieving symptoms and improving exercise performance and left ventricular function in patients with congestive heart failure. Comparison of the various advantages and disadvantages of digitalis with alternative therapies in patients with congestive heart failure shows an important continuing role for digitalis therapy. (<i>JAMA</i>. 1991;265:2995-2997)
Manuscripts Approved for JNCI, August-September 1974
Journal: JNCI Journal of the National Cancer Institute (1974)

Manuscripts Approved for JNCI, August-September 1974 Get access JNCI: Journal of the National Cancer Institute, Volume 53, Issue 4, October 1974, Pages 1189–1191, https://doi.org/10.1093/jnci/53.4.1189-a Published: 01 October 1974
Wisdom, Technology, and the Good Life
Authors: Howard T. Markey
Journal: Environmental Health Perspectives (1979)

Wisdom lies in extraction of good from new and old. Wisdom alone produces a society of wise men unable to leave their caves. Technology alone produces a society ruled by cold, despotic facts. A proper combination of wisdom and technology can produce the good life. That requires recognition of our ambivalence toward technology, a move away from our superspecialization of technologists and nontechnologists and toward a clearer understanding of technology as a most important servant of man.
Incorrect Outcomes Data
Authors: Christopher Bautista, Kenneth Covinsky, Louise Aronson
Journal: JAMA (2015)

Matthew D. Barber, MD, MHS; Linda Brubaker, MD; Kathryn L. Burgio, PhD; Holly E. Richter, PhD, MD; Ingrid Nygaard, MD; Alison C. Weidner, MD; Shawn A. Menefee, MD; Emily S. Lukacz, MD; Peggy Norton, MD; Joseph Schaffer, MD; John N. Nguyen, MD; Diane Borello-France, PhD; Patricia S. Goode, MD; Sharon Jakus-Waldman, MD; Cathie Spino, ScD; Lauren Klein Warren, MS; Marie G. Gantz, PhD; Susan F. Meikle, MD; for the Eunice Kennedy Shriver National Institute of Child Health and Human Development Pelvic Floor Disorders Network